Duchenne Muscular Dystrophy - Ballymena woman campaigns for funds
THE 18-month-old son of a native Ballymena woman is fronting a new campaign to find treatments for the terminal muscle wasting condition from which he suffers.
Little Sam McCausland has Duchenne Muscular Dystrophy (DMD), the most common form of Muscular Dystrophy and the biggest genetic killer in the UK and Ireland.
Sufferers typically become quadriplegic between the age of 10-15 and most boys with DMD die by the end of their teens.
After her son's diagnosis earlier this year and after learning that there is currently no treatment and no cure for DMD, Sam's mum, former Cambridge House pupil, Tracy McCausland and her husband, William, decided to take action themselves.
She told The Ballymena Times: "There is a pitiful lack of funding for research into this disease, and faced with such a bleak prognosis for our son we approached friends and colleagues and gained their support to set up a charity.
"Thus, S.A.M. (Struggle Against Muscular Dystrophy) was born.
"Our vision is to ultimately improve the treatment, quality of life and long term outlook for those affected by Muscular Dystrophy through awareness, research, education and advocacy," she said.
The couple, who now live in Hillsborough, are singular in their determination to help their son and others like him, having almost lost him to meningitis as a baby.
Their other son, Callum (5), who Tracy describes as her "light", has gross and fine motor problems, is unable to communicate through speech and has a diagnosis of severe Dyspraxia.
"We are now facing a lengthy wait for results of DNA analysis to determine the precise genetic mutation which is responsible for Sam's condition. This could take up to a year," she said.
"There are literally hundreds of mutations which can lead to muscular dystrophy – some are caused by missing parts of the genetic code on the dystrophin gene, others by duplications of parts of the code.
" In other cases, a tiny part of the genetic code is affected by a premature stop signal, which causes the DNA to halt the manufacture of dystrophin in which caseinadequate or faulty amounts of the protein are produced. It’s thought that Sam falls into this latter category.
“Finding the tiny stop signal in the DNA is tantamount to finding a punctuation error in War & Peace,” said Tracy.
“The fact that there are so many different genetic mutations of Muscular Dystrophy makes it a very daunting task for scientists to find treatments.
“The reality is that they will actually have to find possibly hundreds of different treatments as each genetic fault will require its own unique cure.
“In the past months I have gone through every emotion known to man,” she said.
“I have found solace in friends, comfort in the optimism of other proactive parents and a relentless appetite for knowledge as I research every aspect of this cruel disease.
“I have moments of utter despair, but when I do I look at my boys, and I realise that it is our job to make every day as precious and as happy as possible, and not to let this spoil the wonder of seeing Sam grow, learn and develop into the clever, funny, mischevious little rascal that he is becoming!
“I look at him and my heart melts. He has been through so much already in his little life.
“He is a fighter – he has proved that already, and with our help, love and support he will have the best life,” said Tracy who named the one-year-old after her father, Sam Letters who together with his wife, Pat, are doting grandparents.
Through her ‘Please Fix S.A.M.’ (Struggle Against Muscular Dystophy) Campaign, Tracy is hoping for help and support from others.
Her appeal is simple: “We must find a treatment, and eventually a cure for Duchenne and Becker Muscular Dystrophy. Sam and all the other boys like him deserve a future.
“We are in a race against time. Please help us win this race for Sam and the other boys”.
Her hope is that the campaign will not only increase public and political awareness but will raise 500,000 to further research into effective treatments for Muscular Dystrophy and, to that end, a number of fundraising events have already been planned.
“We have a parachute jump on June 14 and Sam and I will also be flying to London June 16 to join other MD sufferers in a parliamentary lobby,” said Tracy.
“We also want to appeal to other families in Northern Ireland who are affected by this condition to contact us and they can get the information they need on this by logging on to our website at www.pleasefixsam.com”.
Meanwhile, anyone keen to take to the skies for the campaign can sign up for the fundraising parachute jump which will take place at Garvagh.
It will involve tandem jumps from 13,000 feet while anyone brave enough can go solo from 3,000 feet.
Those taking part must be aged 16 to 80 and a stamped doctor's note is required for anyone above the age of 40.
One person who’s already put her name down is Ballymena beauty therapist, Lindsay Allen.
The 28-year-old heard about the campaign and the forthcoming jump from little Sam’s great aunt Jean Letters, a client of her workplace, Adrian’s on the Ballymoney Road.
“I’m hoping to raise at least 500 but we’ll have to see,” said Lindsay.
“Having heard about Sam and learned about Muscular Dystrophy from Jean, I think its important to support the campaign - there’s so little publicity about this horrible condition. I didn’t know anything about it until I heard Sam had been diagosed with it.
“I decided to do the jump because I just wanted to do something to help,” Lindsay added.
*Anyone wishing to join her in June and participate in the parachute jump should e-mail info@pleasefixsam.com
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Wednesday 30 May 2012
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